Gene Therapy ADA Deficiency

Phase 1

Completed

• Conditions: Adenosine Deaminase Deficiency
• Interventions: Biological: Intravenous infusion of transduced cells

• Registration Number: NCT01279720
• Lead Sponsor: Great Ormond Street Hospital for Children NHS Foundation Trust

Brief Summary

Adenosine deaminase deficiency is an inherited disorder that results in severe abnormalities of the immune system and leaves children unable to fight infection. This trial aims to treat adenosine deaminase deficiency patients using gene therapy.

Detailed Description

Not available

Study Timeline

• Study Start: 2003-10
• Study First Submitted: 2011-01-18
• Study First Submitted QC: 2011-01-18
• Study First Posted: 2011-01-19
• Primary Completion: 2013-11
• Study Completion: 2013-11
• Status Verified: 2015-09
• Last Update Submitted: 2015-09-11
• Last Update Posted: 2015-09-14

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 8

Inclusion Criteria

1. Patients who lack a human leukocyte antigen (HLA)-genotypically identical bone marrow donor OR phenotypically matched family or unrelated donor AND who show incomplete immune reconstitution on Polyethylene glycol-modified adenosine deaminase (PEG-ADA) enzyme replacement therapy (defined by absolute CD4+ count <300 cell/mm3 and who remain on immunoglobulin replacement therapy)
2. Diagnosis of ADA-SCID (Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA)confirmed by DNA sequencing OR by confirmed absence of <3% of ADA enzymatic activity in peripheral blood or (for neonates) in umbilical cord blood erythrocytes and/or leukocytes or in cultured fetal cells derived from either chorionic villus biopsy or amniocentesis, prior to institution of PEG-ADA replacement therapy
3. Parental/guardian/patient signed informed consent

Exclusion Criteria

Not provided

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Intravenous infusion of transduced cells	Intravenous infusion of transduced cells	Intravenous infusion of transduced cells

Primary Outcome Measures

Name	Time	Method
Immunological reconstitution	5 years	Measurement of Immunological reconstitution and Metabolic Correction. 5 year follow up of the last patient enrolled into study

Secondary Outcome Measures

Name	Time	Method
Incidence of adverse reactions	5 years	Incidence of adverse reactions. 5 year follow up of the last patient enrolled into study
Normalisation of nutritional status, growth, and development	5 years	Normalisation of nutritional status, growth, and development. 5 year follow up of the last patient enrolled into study
Molecular characterisation of gene transfer	5 years	Molecular characterisation of gene transfer. 5 year follow up of the last patient enrolled into study

Trial Locations

Locations (1)

Great Ormond Street Hospital for Children NHS Trust; 🇬🇧 London, United Kingdom